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Eligibility
for people ages 8 years and up
Location
at San Francisco, California and other locations
Dates
study started
estimated completion:
Principal Investigator

Description

Summary

The overall goal of this project is to characterize the natural history of disease progression in patients with USH2A related retinal degeneration associated with congenital hearing loss (Usher syndrome type 2a) or non-syndromic retinitis pigmentosa (RP39).

Details

This natural history study of patients with USH2A mutations will accelerate the development of outcome measures for clinical trials. Sensitive, objective outcome measures of retinal degeneration will greatly facilitate development of treatments for Usher syndrome patients. Together these approaches are expected to have an impact on understanding USH2A-related retinal degeneration, developing experimental treatment protocols, and assessing their effectiveness.

The goals and expected impact of this natural history study are to:

  1. Report the natural history of retinal degeneration in patients with biallelic mutations in the USH2A gene
  2. Identify sensitive structural and functional outcome measures to use for future multicenter clinical trials in USH2A-related retinal degeneration
  3. Identify well-defined subpopulations for future clinical trials of investigative treatments for USH2A-related retinal degeneration

Study Objectives

The primary objectives of the natural history study are to:

  1. Characterize the natural history of retinal degeneration associated with biallelic pathogenic mutations in the USH2A gene over 4 years, as measured using functional outcome measures (static perimetry, microperimetry, full-field stimulus threshold (FST), electroretinography (ERG), and visual acuity)
  2. Characterize the natural history of retinal degeneration associated with biallelic pathogenic mutations in the USH2A gene over 4 years, as measured using structural outcome measures (spectral-domain optical coherence tomography (SD-OCT) ellipsoid zone (EZ) area)
  3. Investigate structure-function relationships for insights into the mechanisms of retinal degeneration by relating changes in SD-OCT EZ area to visual field progression in individuals with biallelic pathogenic mutations in the USH2A gene
  4. Assess for possible genotype, phenotype, and environmental risk factors with progression of the outcome measures at 4 years in individuals with biallelic pathogenic mutations in the USH2A gene

Some additional secondary objectives of this study include:

  1. Characterize baseline cross-sectional retinal degeneration associated with biallelic pathogenic mutations in the USH2A gene (as measured using the main outcome measures)
  2. Investigate comorbidities associated with disease (baseline cross-sectional) and disease progression (longitudinal natural history study) in individuals with biallelic pathogenic mutations in the USH2A gene
  3. Explore patient reported outcome (PRO) measures associated with disease (baseline cross-sectional) and disease progression (longitudinal natural history study) in individuals with biallelic pathogenic mutations in the USH2A gene
  4. Evaluate variability and symmetry of left and right eye kinetic perimetry and SD-OCT outcomes at baseline and at 4 years in individuals with biallelic pathogenic mutations in the USH2A gene

Keywords

Usher Syndrome, Type 2A Retinitis Pigmentosa 39

Eligibility

You can join if…

Open to people ages 8 years and up

  • Willing and able to complete the informed consent process
  • Ability to return for all study visits over 48 months if in the natural history study
  • Age ≥ 8 years
  • At least 2 pathogenic or likely pathogenic mutations in USH2A gene from a clinically certified lab report

    Ocular Inclusion Criteria

Both eyes must meet all of the following:

  • Clinical diagnosis of a rod-cone degeneration
  • Clear ocular media and adequate pupil dilation to permit good quality photographic imaging
  • Ability to perform kinetic and static perimetry reliably

You CAN'T join if...

  • Mutations in genes that cause autosomal dominant RP, X-linked RP, or presence of biallelic mutations in autosomal recessive RP/retinal dystrophy genes other than USH2A
  • Expected to enter experimental treatment trial at any time during this study
  • History of more than 1 year of cumulative treatment, at any time, with an agent associated with pigmentary retinopathy (including hydroxychloroquine, chloroquine,thioridazine, and deferoxamine)

    Ocular Exclusion Criteria

If either eye has any of the following, the patient is not eligible:

  • Current vitreous hemorrhage
  • Current or any history of rhegmatogenous retinal detachment
  • Current or any history of (e.g., prior to cataract or refractive surgery) spherical equivalent of the refractive error worse than -8 Diopters of myopia
  • History of intraocular surgery (e.g., cataract surgery, vitrectomy, penetrating keratoplasty, or LASIK) within the last 3 months
  • Current or any history of confirmed diagnosis of glaucoma (e.g., based on glaucoma visual field, nerve changes, or glaucoma filtering surgery)
  • Current or any history of retinal vascular occlusion or proliferative diabetic retinopathy
  • Expected to have cataract removal surgery during the study
  • History or current evidence of ocular disease that, in the opinion of the investigator, may confound assessment of visual function
  • History of treatment for retinitis pigmentosa that could affect the progression of retinal degeneration (including participation in a clinical trial within the last year or a retained drug delivery device)

Locations

  • Moran Eye Center, University of Utah not yet accepting patients
    Salt Lake City, Utah, 84107, United States
  • OSHU Casey Eye Institute not yet accepting patients
    Portland, Oregon, 97239, United States
  • Retina Foundation of the Southwest accepting new patients
    Dallas, Texas, 75231, United States
  • Baylor Eye Physicians and Surgeons not yet accepting patients
    Houston, Texas, 77030, United States
  • Medical College of Wiconsin not yet accepting patients
    Milwaukee, Wisconsin, 53226, United States
  • Kellogg Eye Center, University of Michigan not yet accepting patients
    Ann Arbor, Michigan, 48105, United States
  • Emory Eye Center not yet accepting patients
    Atlanta, Georgia, 30322, United States
  • Hospital for Sick Children not yet accepting patients
    Toronto, Canada
  • Vitreo-Retinal Associates not yet accepting patients
    Gainesville, Florida, 32607, United States
  • Duke University Eye Center not yet accepting patients
    Durham, North Carolina, 27710, United States
  • National Eye Institute/National Institutes of Health not yet accepting patients
    Bethesda, Maryland, 20892-2510, United States
  • Wilmer Eye Institute at Johns Hopkins not yet accepting patients
    Baltimore, Maryland, 21287-9277, United States
  • Rutgers University not yet accepting patients
    New Brunswick, New Jersey, 08901, United States
  • Columbia University not yet accepting patients
    New York, New York, 10032, United States
  • Massachusetts Eye and Ear not yet accepting patients
    Boston, Massachusetts, 02114, United States
  • Moorfields Eye Hostpital not yet accepting patients
    London, United Kingdom
  • Radboud University not yet accepting patients
    Nijmegen, Netherlands
  • Ghent University not yet accepting patients
    Ghent, Belgium
  • Institut de la Vision not yet accepting patients
    Paris, 75012, France
  • University of Tubingen not yet accepting patients
    Tübingen, Germany

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
Jaeb Center for Health Research
Links
public website
ID
NCT03146078
Lead Scientist
Jacque Duncan
Study Type
Observational
Last Updated
May 1, 2017
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